Canonical Allele Identifier: PA2825446142
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153859
ClinVar RCV Id: RCV003077828

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070833.1:p.Leu697Phe
CA375315208
NM_001077365.2:c.2089C>T